Human SNP ID | rs10428132 |
---|---|
Human chromosome | chr3 |
Human SNP position | 38736063 |
Pig chromosome | chr13 |
Pig SNP position | 25740919 |
PubMed ID | 23872634 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23872634 |
Study | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. |
Disease/Trait | Brugada syndrome |
Initial sample | 312 European ancestry cases, 1,115 European ancestry controls |
Replication sample | 594 European ancestry cases, 806 European ancestry controls, 208 Japanese ancestry cases, 1,1016 Japanese controls |
Region | 3p22.2 |
Chromosome id | chr3 |
Chromosome position | 38736063 |
Reported gene | SCN10A |
Mapped gene | SCN10A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 6336 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10428132-T |
SNPs | rs10428132 |
Merged | 0 |
SNP id current | 10428132 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.41 |
P value | 1E-68 |
Pvalue mlog | 68 |
P value text | |
Or beta | 2.55 |
%95 Ci | [2.30-2.84] |
Platform | Affymetrix [360149] |
CNV | N |
Mapped trait | Brugada syndrome |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_130 |
Study accession | GCST002098 |